Incidental Mutation 'R8677:Ssh2'
| ID |
661465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssh2
|
| Ensembl Gene |
ENSMUSG00000037926 |
| Gene Name |
slingshot protein phosphatase 2 |
| Synonyms |
SSH-2 |
| MMRRC Submission |
068532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R8677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77107113-77351046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77346019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1335
(T1335A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037912]
[ENSMUST00000181283]
|
| AlphaFold |
Q5SW75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037912
AA Change: T1329A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042625
Gene: ENSMUSG00000037926
AA Change: T1329A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
251 |
302 |
3.1e-13 |
PFAM |
|
DSPc
|
307 |
445 |
2.2e-41 |
SMART |
|
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181283
AA Change: T1335A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137933
Gene: ENSMUSG00000037926
AA Change: T1335A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEK_C
|
256 |
309 |
1.7e-18 |
PFAM |
|
DSPc
|
313 |
451 |
2.2e-41 |
SMART |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1376 |
1391 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
A |
C |
8: 106,427,576 (GRCm39) |
S25R |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,410,569 (GRCm39) |
H136Q |
probably damaging |
Het |
| Adrm1 |
C |
T |
2: 179,813,832 (GRCm39) |
T2M |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,331,209 (GRCm39) |
L246M |
probably damaging |
Het |
| Bltp2 |
C |
T |
11: 78,174,982 (GRCm39) |
R1706C |
probably damaging |
Het |
| Cacnb3 |
T |
C |
15: 98,539,931 (GRCm39) |
L258P |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,025,493 (GRCm39) |
V76M |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,871,633 (GRCm39) |
F80L |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,267,519 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
T |
C |
19: 47,640,240 (GRCm39) |
T1042A |
probably benign |
Het |
| Comp |
A |
T |
8: 70,832,910 (GRCm39) |
N623Y |
probably damaging |
Het |
| Ctnnal1 |
A |
G |
4: 56,813,272 (GRCm39) |
L653P |
probably benign |
Het |
| Cx3cl1 |
G |
T |
8: 95,506,443 (GRCm39) |
R149S |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,522 (GRCm39) |
N58K |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,409,840 (GRCm39) |
I595V |
probably damaging |
Het |
| Dhx15 |
T |
C |
5: 52,341,886 (GRCm39) |
D144G |
probably benign |
Het |
| Dlat |
T |
C |
9: 50,570,007 (GRCm39) |
E120G |
probably damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,221,352 (GRCm39) |
Y273N |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,511,176 (GRCm39) |
V778D |
probably benign |
Het |
| Grn |
T |
C |
11: 102,324,393 (GRCm39) |
S129P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,757 (GRCm39) |
F169L |
possibly damaging |
Het |
| Hcn2 |
A |
G |
10: 79,560,619 (GRCm39) |
I317V |
probably benign |
Het |
| Heca |
T |
C |
10: 17,791,424 (GRCm39) |
N211D |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,414 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ifitm10 |
T |
A |
7: 141,909,749 (GRCm39) |
I116F |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,849,579 (GRCm39) |
H37R |
probably benign |
Het |
| Ivl |
A |
T |
3: 92,479,986 (GRCm39) |
D26E |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,436,418 (GRCm39) |
E761V |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,655,753 (GRCm39) |
V923F |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,799,805 (GRCm39) |
F32L |
probably benign |
Het |
| Micu2 |
T |
C |
14: 58,161,420 (GRCm39) |
R301G |
possibly damaging |
Het |
| Miip |
C |
T |
4: 147,947,503 (GRCm39) |
C219Y |
probably damaging |
Het |
| Mn1 |
T |
A |
5: 111,566,885 (GRCm39) |
L285* |
probably null |
Het |
| Mthfd1l |
T |
A |
10: 3,998,250 (GRCm39) |
N664K |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,810,437 (GRCm39) |
H659Q |
probably benign |
Het |
| Myadml2 |
G |
A |
11: 120,538,815 (GRCm39) |
P7S |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nlrp4c |
C |
T |
7: 6,075,644 (GRCm39) |
T645I |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,359,936 (GRCm39) |
V1260I |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,148 (GRCm39) |
L1293P |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,415 (GRCm39) |
I29F |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,775 (GRCm39) |
L38P |
probably benign |
Het |
| Pcdh12 |
G |
T |
18: 38,415,191 (GRCm39) |
H645N |
probably benign |
Het |
| Pdcd1 |
A |
T |
1: 93,968,952 (GRCm39) |
L122H |
probably damaging |
Het |
| Pknox2 |
G |
A |
9: 36,821,887 (GRCm39) |
P246L |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,626,381 (GRCm39) |
S1590T |
possibly damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,385,122 (GRCm39) |
T335A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,011,335 (GRCm39) |
I598T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,615,828 (GRCm39) |
T337A |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,819,055 (GRCm39) |
T415S |
probably benign |
Het |
| Rbm7 |
T |
A |
9: 48,401,273 (GRCm39) |
R152* |
probably null |
Het |
| Sanbr |
T |
C |
11: 23,545,471 (GRCm39) |
D474G |
probably benign |
Het |
| Sf3b2 |
C |
T |
19: 5,336,257 (GRCm39) |
R513H |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,364,035 (GRCm39) |
S214P |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,984 (GRCm39) |
T312A |
probably benign |
Het |
| Tef |
T |
A |
15: 81,699,169 (GRCm39) |
L59Q |
probably damaging |
Het |
| Tmem131l |
A |
C |
3: 83,836,009 (GRCm39) |
V700G |
probably damaging |
Het |
| Twsg1 |
A |
G |
17: 66,233,402 (GRCm39) |
S183P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,840,243 (GRCm39) |
T203A |
probably benign |
Het |
| Uqcc6 |
G |
T |
10: 82,456,050 (GRCm39) |
T37K |
possibly damaging |
Het |
| Vmn2r75 |
G |
T |
7: 85,814,410 (GRCm39) |
P361Q |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,346,978 (GRCm39) |
N3073I |
probably damaging |
Het |
| Zfp114 |
A |
G |
7: 23,880,070 (GRCm39) |
N140D |
probably benign |
Het |
|
| Other mutations in Ssh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Ssh2
|
APN |
11 |
77,332,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01141:Ssh2
|
APN |
11 |
77,340,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01520:Ssh2
|
APN |
11 |
77,340,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01803:Ssh2
|
APN |
11 |
77,316,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01989:Ssh2
|
APN |
11 |
77,344,511 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02322:Ssh2
|
APN |
11 |
77,307,239 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02466:Ssh2
|
APN |
11 |
77,307,233 (GRCm39) |
splice site |
probably benign |
|
|
IGL02683:Ssh2
|
APN |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02706:Ssh2
|
APN |
11 |
77,344,232 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02719:Ssh2
|
APN |
11 |
77,316,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02721:Ssh2
|
APN |
11 |
77,345,551 (GRCm39) |
nonsense |
probably null |
|
|
IGL02732:Ssh2
|
APN |
11 |
77,328,602 (GRCm39) |
splice site |
probably null |
|
|
IGL02745:Ssh2
|
APN |
11 |
77,346,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Ssh2
|
APN |
11 |
77,344,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Ssh2
|
APN |
11 |
77,312,032 (GRCm39) |
splice site |
probably benign |
|
|
david
|
UTSW |
11 |
77,316,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
faba
|
UTSW |
11 |
77,332,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
goliath
|
UTSW |
11 |
77,344,349 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Vicia
|
UTSW |
11 |
77,345,792 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03055:Ssh2
|
UTSW |
11 |
77,299,021 (GRCm39) |
nonsense |
probably null |
|
|
R0024:Ssh2
|
UTSW |
11 |
77,345,792 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0374:Ssh2
|
UTSW |
11 |
77,298,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Ssh2
|
UTSW |
11 |
77,345,620 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0834:Ssh2
|
UTSW |
11 |
77,328,459 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1714:Ssh2
|
UTSW |
11 |
77,344,850 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1743:Ssh2
|
UTSW |
11 |
77,328,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Ssh2
|
UTSW |
11 |
77,340,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Ssh2
|
UTSW |
11 |
77,340,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Ssh2
|
UTSW |
11 |
77,345,494 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3947:Ssh2
|
UTSW |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3948:Ssh2
|
UTSW |
11 |
77,289,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4133:Ssh2
|
UTSW |
11 |
77,312,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4256:Ssh2
|
UTSW |
11 |
77,299,009 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4499:Ssh2
|
UTSW |
11 |
77,283,893 (GRCm39) |
nonsense |
probably null |
|
|
R4548:Ssh2
|
UTSW |
11 |
77,341,010 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4644:Ssh2
|
UTSW |
11 |
77,340,402 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4690:Ssh2
|
UTSW |
11 |
77,346,031 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4788:Ssh2
|
UTSW |
11 |
77,320,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Ssh2
|
UTSW |
11 |
77,316,146 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5014:Ssh2
|
UTSW |
11 |
77,346,102 (GRCm39) |
nonsense |
probably null |
|
|
R5380:Ssh2
|
UTSW |
11 |
77,344,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5574:Ssh2
|
UTSW |
11 |
77,340,941 (GRCm39) |
missense |
probably benign |
|
|
R5593:Ssh2
|
UTSW |
11 |
77,312,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5739:Ssh2
|
UTSW |
11 |
77,340,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Ssh2
|
UTSW |
11 |
77,344,291 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6542:Ssh2
|
UTSW |
11 |
77,340,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6713:Ssh2
|
UTSW |
11 |
77,340,259 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7108:Ssh2
|
UTSW |
11 |
77,345,620 (GRCm39) |
missense |
probably benign |
|
|
R7124:Ssh2
|
UTSW |
11 |
77,345,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7255:Ssh2
|
UTSW |
11 |
77,316,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Ssh2
|
UTSW |
11 |
77,344,349 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7362:Ssh2
|
UTSW |
11 |
77,340,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7395:Ssh2
|
UTSW |
11 |
77,283,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7412:Ssh2
|
UTSW |
11 |
77,340,934 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7493:Ssh2
|
UTSW |
11 |
77,328,542 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7686:Ssh2
|
UTSW |
11 |
77,316,150 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7870:Ssh2
|
UTSW |
11 |
77,344,441 (GRCm39) |
missense |
probably benign |
|
|
R7895:Ssh2
|
UTSW |
11 |
77,345,452 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7963:Ssh2
|
UTSW |
11 |
77,312,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8030:Ssh2
|
UTSW |
11 |
77,345,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8065:Ssh2
|
UTSW |
11 |
77,332,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Ssh2
|
UTSW |
11 |
77,345,755 (GRCm39) |
nonsense |
probably null |
|
|
R8294:Ssh2
|
UTSW |
11 |
77,345,027 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8464:Ssh2
|
UTSW |
11 |
77,345,079 (GRCm39) |
nonsense |
probably null |
|
|
R8469:Ssh2
|
UTSW |
11 |
77,340,434 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8547:Ssh2
|
UTSW |
11 |
77,340,533 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8758:Ssh2
|
UTSW |
11 |
77,344,843 (GRCm39) |
missense |
probably benign |
|
|
R9029:Ssh2
|
UTSW |
11 |
77,328,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Ssh2
|
UTSW |
11 |
77,312,062 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9126:Ssh2
|
UTSW |
11 |
77,346,102 (GRCm39) |
nonsense |
probably null |
|
|
R9146:Ssh2
|
UTSW |
11 |
77,328,502 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9377:Ssh2
|
UTSW |
11 |
77,298,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9483:Ssh2
|
UTSW |
11 |
77,283,976 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9615:Ssh2
|
UTSW |
11 |
77,316,203 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
RF018:Ssh2
|
UTSW |
11 |
77,344,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0017:Ssh2
|
UTSW |
11 |
77,332,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ssh2
|
UTSW |
11 |
77,340,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTACCTGGACCTTTGTAAAGAC -3'
(R):5'- GTTCTGCCATGTTGCTGACG -3'
Sequencing Primer
(F):5'- CTACTTACCAGATAGAGAGCTTGTC -3'
(R):5'- CATGTTGCTGACGGGGCG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation